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Items: 20

1.

Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases.

Hofmann N, Galetskiy D, Rauch D, Wittmann T, Marquardt A, Griese M, Zarbock R.

PLoS One. 2016 Mar 31;11(3):e0152594. doi: 10.1371/journal.pone.0152594. eCollection 2016.

2.

Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs.

van Moorsel CH, Hoffman TW, van Batenburg AA, Klay D, van der Vis JJ, Grutters JC.

Biomed Res Int. 2015;2015:304186. doi: 10.1155/2015/304186. Epub 2015 Oct 11. Review.

3.

Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.

Mulugeta S, Nureki S, Beers MF.

Am J Physiol Lung Cell Mol Physiol. 2015 Sep 15;309(6):L507-25. doi: 10.1152/ajplung.00139.2015. Epub 2015 Jul 17. Review.

PMID:
26186947
4.

Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Jackson T, Wegner DJ, White FV, Hamvas A, Cole FS, Wambach JA.

J Perinatol. 2015 Mar;35(3):231-2. doi: 10.1038/jp.2014.236.

5.

Diseases of pulmonary surfactant homeostasis.

Whitsett JA, Wert SE, Weaver TE.

Annu Rev Pathol. 2015;10:371-93. doi: 10.1146/annurev-pathol-012513-104644. Review.

6.

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM.

Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC.

7.

Genetic risk factors associated with respiratory distress syndrome.

Jo HS.

Korean J Pediatr. 2014 Apr;57(4):157-63. doi: 10.3345/kjp.2014.57.4.157. Epub 2014 Apr 30. Review.

8.

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, Cole FS.

J Pediatr. 2014 Jun;164(6):1316-21.e3. doi: 10.1016/j.jpeds.2014.02.021. Epub 2014 Mar 20.

9.

Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3.

Beers MF, Zhao M, Tomer Y, Russo SJ, Zhang P, Gonzales LW, Guttentag SH, Mulugeta S.

Am J Physiol Lung Cell Mol Physiol. 2013 Dec;305(12):L970-80. doi: 10.1152/ajplung.00184.2013. Epub 2013 Oct 18.

10.

Endoplasmic reticulum protein quality control is determined by cooperative interactions between Hsp/c70 protein and the CHIP E3 ligase.

Matsumura Y, Sakai J, Skach WR.

J Biol Chem. 2013 Oct 25;288(43):31069-79. doi: 10.1074/jbc.M113.479345. Epub 2013 Aug 29.

11.

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A.

Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19.

12.

Surfactant phospholipid metabolism.

Agassandian M, Mallampalli RK.

Biochim Biophys Acta. 2013 Mar;1831(3):612-25. doi: 10.1016/j.bbalip.2012.09.010. Epub 2012 Sep 29. Review.

13.

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Bækvad-Hansen M, Nordestgaard BG, Dahl M.

Respir Res. 2012 Aug 6;13:67. doi: 10.1186/1465-9921-13-67.

14.

Genetic Basis of Children's Interstitial Lung Disease.

Nogee LM.

Pediatr Allergy Immunol Pulmonol. 2010 Mar;23(1):15-24.

15.

Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L.

Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.

16.

Surfactant dysfunction.

Gower WA, Nogee LM.

Paediatr Respir Rev. 2011 Dec;12(4):223-9. doi: 10.1016/j.prrv.2011.01.005. Epub 2011 Mar 5. Review.

17.

Role of Hsc70 binding cycle in CFTR folding and endoplasmic reticulum-associated degradation.

Matsumura Y, David LL, Skach WR.

Mol Biol Cell. 2011 Aug 15;22(16):2797-809. doi: 10.1091/mbc.E11-02-0137. Epub 2011 Jun 22.

18.

Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells.

Weichert N, Kaltenborn E, Hector A, Woischnik M, Schams A, Holzinger A, Kern S, Griese M.

Respir Res. 2011 Jan 7;12:4. doi: 10.1186/1465-9921-12-4.

19.

Genetic disorders of surfactant dysfunction.

Wert SE, Whitsett JA, Nogee LM.

Pediatr Dev Pathol. 2009 Jul-Aug;12(4):253-74. doi: 10.2350/09-01-0586.1. Review.

20.

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.

Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A.

Pediatr Res. 2008 Jun;63(6):645-9. doi: 10.1203/PDR.0b013e31816fdbeb.

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